Nager syndrome: Confirmation of SF3B4 haploinsufficiency as the major cause

Clinical Genetics

Volumn 86, Issue 3, 2014, Pages 246-251

  Petit, F ^a,b   Escande, F ^a   Jourdain, A S ^a   Porchet, N ^a,b   Amiel, J ^c,d   Doray, B ^e   Delrue, M A ^f   Flori, E ^e   Kim, C A ^g   Marlin, S ^h   Robertson, S P ⁱ   Manouvrier Hanu, S ^a,b   Holder Espinasse, M ^a,b,j  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b UNIV LILLE   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d IMAGINE INSTITUTE   (France)

^e HÔPITAL DE HAUTEPIERRE   (France)

^f HÔPITAL PELLEGRIN   (France)

^g UNIVERSITY OF SÃO PAULO   (Brazil)

^h ARMAND TROUSSEAU HOSPITAL   (France)

ⁱ UNIVERSITY OF OTAGO   (New Zealand)

^j GUY S HOSPITAL   (United Kingdom)

more..

Author keywords

Acro facial dysostosis; Nager syndrome; SF3B4; Spliceosome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR GENE; MALE; MULTIGENE FAMILY; NAGER ACROFACIAL DYSOSTOSIS; NULL ALLELE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SF3B4 GENE; YOUNG ADULT; DNA SEQUENCE; DOMINANT GENE; GENETIC PREDISPOSITION; GENETICS; MANDIBULOFACIAL DYSOSTOSIS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY;

RNA BINDING PROTEIN; SF3B4 PROTEIN, HUMAN;

BASE SEQUENCE; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HAPLOINSUFFICIENCY; HUMANS; MALE; MANDIBULOFACIAL DYSOSTOSIS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; RNA-BINDING PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 84907598146     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12259     Document Type: Article

References (10)

1. McDonald MT, Gorski JL. Nager acrofacial dysostosis. J Med Genet 1993: 30 (9): 779-782.
2. Bernier FP, Caluseriu O, Ng S et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 2012: 90 (5): 925-933.
3. Czeschik JC, Voigt C, Alanay Y et al. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum Genet 2013: 132 (8): 885-898.
4. Champion-Arnaud P, Reed R. The prespliceosome components SAP 49 and SAP 145 interact in a complex implicated in tethering U2 snRNP to the branch site. Genes Dev 1994: 8 (16): 1974-1983.
5. Watanabe H, Shionyu M, Kimura T et al. Splicing factor 3b subunit 4 binds BMPR-IA and inhibits osteochondral cell differentiation. J Biol Chem 2007: 282 (28): 20728-20738.
6. Ruiz-Lozano P, Doevendans P, Brown A et al. Developmental expression of the murine spliceosome-associated protein mSAP49. Dev Dyn 1997: 208 (4): 482-490.
7. Ansart-Franquet H, Houfflin-Debarge V, Ghoumid J et al. Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy. Prenat Diagn 2009: 29 (2): 187-189.
8. Lines MA, Huang L, Schwartzentruber J et al. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet 2012: 90 (2): 369-377.
9. Gordon CT, Petit F, Oufadem M et al. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. J Med Genet 2012: 49 (12): 737-746.
10. Isono K, Mizutani-Koseki Y, Komori T et al. Mammalian polycomb-mediated repression of Hox genes requires the essential spliceosomal protein Sf3b1. Genes Dev 2005: 19 (5): 536-541.